ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2717+158C>T (rs5743289)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960463 SCV001107435 likely benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Breda Genetics srl RCV001029749 SCV001190343 likely benign Autoinflammatory syndrome 2019-11-05 criteria provided, single submitter clinical testing The variant is reported as risk factor for susceptibility to Crohn disease and susceptibility to Yao syndrome in ClinVar (Variation ID: 4697). It is also reported in ClinVar as pathogenic for Blau syndrome in one study for a patient with early-onset sarcoidosis and gastrointestinal granulomas (Borzutzky et al., 2010, PMID: 19467619), although in the article the authors define the variant only as polymorphism related to a susceptibility to Crohn disease. Furthermore, the variant is reported with an estimated allele frequency of 0.052 in 1000 Genomes Project and 0.1018 in gnomAD genomes, with homozygous individuals reported. We have also observed this variant in a large subset of samples without autoinflammatory syndromes at Breda Genetics. Based on the current evidence and high allele frequency, we interpret this variant as likely neutral in regard of pure mendelian inheritance for any form of genetic autoinflammatory syndrome.
OMIM RCV000004962 SCV000025138 risk factor Inflammatory bowel disease 1 2004-04-01 no assertion criteria provided literature only
OMIM RCV000416486 SCV000494282 pathogenic Blau syndrome 2004-04-01 no assertion criteria provided literature only
OMIM RCV000416489 SCV000494283 risk factor Yao syndrome 2004-04-01 no assertion criteria provided literature only

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